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Riitta Herva

Research Profile

Procedures

Physiology

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Newborn Infant

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Finland

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Anne Polvi; Leena Vainionpää; Riitta Herva; Iiris Hovatta; James P Keating; Tero Kivelä; Jenni Lahtinen; Tarja Linnankivi; Outi Mäkitie; Davide Pareyson; Helena Pihko; Anna-Elina Lehesjoki
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
Tuula Kaukola; Marja Ojaniemi; Jarno Tuimala; Riitta Herva; Timo Saarela; Stephen Kingsmore; Mikko Hallman
Cord blood chemokines differentiate between spontaneous and elective preterm births in singleton pregnancies.
Hanna Kallankari; Tuula Kaukola; Marja Ojaniemi; Riitta Herva; Marja Perhomaa; Reetta Vuolteenaho; Stephen Kingsmore; Mikko Hallman
Chemokine CCL18 predicts intraventricular hemorrhage in very preterm infants.

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All Publications

2012: Anne Polvi; Leena Vainionpää; Riitta Herva; Iiris Hovatta; James P Keating; Tero Kivelä; Jenni Lahtinen; Tarja Linnankivi; Outi Mäkitie; Davide Pareyson; Helena Pihko; Anna-Elina Lehesjoki
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
American journal of human genetics 2012;90(3):540-9.
2011: Tuula Kaukola; Marja Ojaniemi; Jarno Tuimala; Riitta Herva; Timo Saarela; Stephen Kingsmore; Mikko Hallman
Cord blood chemokines differentiate between spontaneous and elective preterm births in singleton pregnancies.
Cytokine 2011;54(1):85-91.
2010: Hanna Kallankari; Tuula Kaukola; Marja Ojaniemi; Riitta Herva; Marja Perhomaa; Reetta Vuolteenaho; Stephen Kingsmore; Mikko Hallman
Chemokine CCL18 predicts intraventricular hemorrhage in very preterm infants.
Annals of medicine 2010;42(6):416-25.
2010: Pia Vahteristo; Taru A Koski; Laura Näätsaari; Maija Kiuru; Auli Karhu; Riitta Herva; Satu-Leena Sallinen; Outi Vierimaa; Erik Björck; Stéphane Richard; Betty Gardie; Didier Bessis; Emmanuel Van Glabeke; Ignacio Blanco; Richard Houlston; Leigha Senter; Marja Hietala; Kristiina Aittomäki; Lauri A Aaltonen; Virpi Launonen; Rainer Lehtonen
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.
Familial cancer 2010;9(2):245-51.
2009: Maija Bolszak; Anna-Kaisa Anttonen; Tuomas Komulainen; Reetta Hinttala; Salla Pakanen; Raija Sormunen; Riitta Herva; Anna-Elina Lehesjoki; Kari Majamaa; Heikki Rantala; Johanna Uusimaa
Digenic mutations in severe myoclonic epilepsy of infancy.
Epilepsy research 2009;85(2-3):300-4.
2009: Taru A Koski; Heli J Lehtonen; Kowan J Jee; Shinsuke Ninomiya; Simon A Joosse; Pia Vahteristo; Maija Kiuru; Auli Karhu; Heli Sammalkorpi; Sakari Vanharanta; Rainer Lehtonen; Henrik Edgren; petra nederlof; Marja Hietala; Kristiina Aittomäki; Riitta Herva; Sakari Knuutila; Lauri A Aaltonen; Virpi Launonen
Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer.
Genes, chromosomes & cancer 2009;48(7):544-51.
2009: Tuula Kaukola; Jarno Tuimala; Riitta Herva; Stephen Kingsmore; Mikko Hallman
Cord immunoproteins as predictors of respiratory outcome in preterm infants.
American journal of obstetrics and gynecology 2009;200(1):100.e1-8.
2009: Reija Paananen; Anna-Karin Husa; Reetta Vuolteenaho; Riitta Herva; Tuula Kaukola; Mikko Hallman
Blood cytokines during the perinatal period in very preterm infants: relationship of inflammatory response and bronchopulmonary dysplasia.
The Journal of pediatrics 2009;154(1):39-43.e3.
2008: Alexandra Götz; Pirjo Isohanni; Helena Pihko; Anders Paetau; Riitta Herva; Outi Saarenpää-Heikkilä; Leena Valanne; Sanna Marjavaara; Anu Suomalainen
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
Brain : a journal of neurology 2008;131(Pt 11):2841-50.
2008: Anders Paetau; Heli Honkala; Riitta Salonen; Jaakko Ignatius; Marjo Kestilä; Riitta Herva
Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.
Journal of neuropathology and experimental neurology 2008;67(8):750-62.
2008: Taru Ahvenainen; Heli J Lehtonen; Rainer Lehtonen; Pia Vahteristo; Kristiina Aittomäki; Gareth Baynam; Charlotte Dommering; Charis Eng; Stephen B Gruber; Henrik Grönberg; Rauno Harvima; Riitta Herva; Marja Hietala; Minna Kujala; Helena Kääriäinen; Lone Sunde; Outi Vierimaa; Patrick J Pollard; Ian P M Tomlinson; Erik Björck; Lauri A Aaltonen; Virpi Launonen
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
Cancer genetics and cytogenetics 2008;183(2):83-8.
2008: Johanna Uusimaa; Reetta Hinttala; Heikki Rantala; Markku Päivärinta; Riitta Herva; Matias Röyttä; Heidi Soini; Jukka S Moilanen; Anne M Remes; Ilmo E Hassinen; Kari Majamaa
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
Epilepsia 2008;49(6):1038-45.
2008: Heidi O Nousiainen; Marjo Kestilä; Niklas Pakkasjärvi; Heli Honkala; Satu Kuure; Jonna Tallila; Katri Vuopala; Jaakko Ignatius; Riitta Herva; Leena Peltonen
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
Nature genetics 2008;40(2):155-7.
2007: Anna H Hakonen; Pirjo Isohanni; Anders Paetau; Riitta Herva; Anu Suomalainen; Tuula Lönnqvist
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Brain : a journal of neurology 2007;130(Pt 11):3032-40.
2007: Reetta Hinttala; Vesa Karttunen; Ari Karttunen; Riitta Herva; Johanna Uusimaa; Anne M Remes
Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.
Acta neuropathologica 2007;114(5):543-5.
2007: Heli J Lehtonen; Markus Makinen; Maija Kiuru; Päivi Laiho; Riitta Herva; Ivonne van Minderhout; Pancras Hogendoorn; Cees J Cornelisse; Peter Devilee; Virpi Launonen; Lauri A Aaltonen
Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability.
International journal of cancer. Journal international du cancer 2007;121(6):1386-9.
2007: Jing Liu; Dong Li; Bin Cao; Yu-xia Li; Riitta Herva; Yun-Shang Piao; Yan-Ling Wang
Expression and localization of SWAP-70 in human fetomaternal interface and placenta during tubal pregnancy and normal placentation.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2007;55(7):701-8.
2007: Heli J Lehtonen; Ignacio Blanco; Jose M Piulats; Riitta Herva; Virpi Launonen; Lauri A Aaltonen
Conventional renal cancer in a patient with fumarate hydratase mutation.
Human pathology 2007;38(5):793-6.
2006: Tarja T Linnankivi; Leena Valanne; Anders Paetau; Irina Alafuzoff; J M Hakumäki; Tero Kivelä; Tuula Lönnqvist; Outi Mäkitie; L Pääkkönen; Leena Vainionpää; R Vanninen; Riitta Herva; Helena Pihko
Cerebroretinal microangiopathy with calcifications and cysts.
Neurology 2006;67(8):1437-43.
2006: Niklas Pakkasjärvi; Annukka Ritvanen; Riitta Herva; Leena Peltonen; Marjo Kestilä; Jaakko Ignatius
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study.
American journal of medical genetics. Part A 2006;140A(17):1834-9.
2006: Heli J Lehtonen; Maija Kiuru; Sanna K Ylisaukko-oja; Reijo Salovaara; Riitta Herva; Pasi A Koivisto; Outi Vierimaa; Kristiina Aittomäki; Eero Pukkala; Virpi Launonen; Lauri A Aaltonen
Increased risk of cancer in patients with fumarate hydratase germline mutation.
Journal of medical genetics 2006;43(6):523-6.
2006: Tuula Kaukola; Riitta Herva; Marja Perhomaa; Eija Pääkkö; Stephen Kingsmore; Leena Vainionpää; Mikko Hallman
Population cohort associating chorioamnionitis, cord inflammatory cytokines and neurologic outcome in very preterm, extremely low birth weight infants.
Pediatric research 2006;59(3):478-83.
2005: Niklas Pakkasjärvi; Massimiliano Gentile; Juha Saharinen; Jarno Honkanen; Riitta Herva; Leena Peltonen; Marjo Kestilä
Indicative oligodendrocyte dysfunction in spinal cords of human fetuses suffering from a lethal motoneuron disease.
Journal of neurobiology 2005;65(3):269-81.
2005: Tuula Kaukola; Juha Räsänen; Riitta Herva; Dhavalkumar D Patel; Mikko Hallman
Suboptimal neurodevelopment in very preterm infants is related to fetal cardiovascular compromise in placental insufficiency.
American journal of obstetrics and gynecology 2005;193(2):414-20.
2005: Mikko Kärppä; Riitta Herva; Ali-Reza Moslemi; Anders Oldfors; Sakari Kakko; Kari Majamaa
Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.
Brain : a journal of neurology 2005;128(Pt 8):1861-9.
2005: Tommi E Vaskivuo; Minna Mäentausta; Svea Törn; Olayiwola O Oduwole; Annika Lönnberg; Riitta Herva; Veli Isomaa; Juha S Tapanainen
Estrogen receptors and estrogen-metabolizing enzymes in human ovaries during fetal development.
The Journal of clinical endocrinology and metabolism 2005;90(6):3752-6.
2005: Yan Li; Veli Isomaa; Anitta Pulkka; Riitta Herva; Hellevi Peltoketo; Pirkko Vihko
Expression of 3beta-hydroxysteroid dehydrogenase type 1, P450 aromatase, and 17beta-hydroxysteroid dehydrogenase types 1, 2, 5 and 7 mRNAs in human early and mid-gestation placentas.
Placenta 2005;26(5):387-92.
2005: Timo Timonen; Merja Möttönen; Tapio Nousiainen; Riitta Herva; Eeva-Riitta Savolainen
[Gaucher disease].
Duodecim; lääketieteellinen aikakauskirja 2005;121(19):2068-76.
2005: Su-Xia Bai; Yan-Ling Wang; Li Qin; Zhi-Jie Xiao; Riitta Herva; Yun-Shang Piao
Dynamic expression of matrix metalloproteinases (MMP-2, -9 and -14) and the tissue inhibitors of MMPs (TIMP-1, -2 and -3) at the implantation site during tubal pregnancy.
Reproduction (Cambridge, England) 2005;129(1):103-13.
2004: Anne M Remes; Saara Finnilä; H Mononen; Hannu Tuominen; Reijo Takalo; Riitta Herva; Kari Majamaa
Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathy.
Neurology 2004;63(2):234-40.
2004: Anu Väänänen; Leo Tjäderhane; Lauri Eklund; Ritva Heljasvaara; Taina Pihlajaniemi; Riitta Herva; Yanli Ding; John D Bartlett; Tuula Salo
Expression of collagen XVIII and MMP-20 in developing teeth and odontogenic tumors.
Matrix biology : journal of the International Society for Matrix Biology 2004;23(3):153-61.
2004: Riitta Kaarteenaho-Wiik; Paavo Pääkkö; Riitta Herva; Juha Risteli; Ylermi Soini
Type I and III collagen protein precursors and mRNA in the developing human lung.
The Journal of pathology 2004;203(1):567-74.
2004: Sakari Vanharanta; Mary Buchta; Sarah R McWhinney; Sanna K Virta; Mariola Peçzkowska; Carl D Morrison; Rainer Lehtonen; Andrzej Januszewicz; Heikki Järvinen; Matti Juhola; Jukka-Pekka Mecklin; Eero Pukkala; Riitta Herva; Maija Kiuru; Nina N Nupponen; Lauri A Aaltonen; Hartmut P H Neumann; Charis Eng
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.
American journal of human genetics 2004;74(1):153-9.
2003: Yan Li; Li Qin; Zhi-Jie Xiao; Yan-Ling Wang; Riitta Herva; Jin-Hua Leng; Jing-He Lang; Veli Isomaa; Yun-Shang Piao
Expression of P450 aromatase and 17beta-hydroxysteroid dehydrogenase type 1 at fetal-maternal interface during tubal pregnancy.
The Journal of steroid biochemistry and molecular biology 2003;87(4-5):241-6.
2003: Li Qin; Yan-Ling Wang; Su-Xia Bai; Zhi-Jie Xiao; Riitta Herva; Yun-Shang Piao
Expression of integrins and extracellular matrix proteins at the maternal-fetal interface during tubal implantation.
Reproduction (Cambridge, England) 2003;126(3):383-91.
2003: Ilkka Ketola; Jorma Toppari; Tommi E Vaskivuo; Riitta Herva; Juha S Tapanainen; Markku Heikinheimo
Transcription factor GATA-6, cell proliferation, apoptosis, and apoptosis-related proteins Bcl-2 and Bax in human fetal testis.
The Journal of clinical endocrinology and metabolism 2003;88(4):1858-65.
2003: Johanna Uusimaa; Saara Finnilä; Leena Vainionpää; Mikko Kärppä; Riitta Herva; Heikki Rantala; Ilmo E Hassinen; Kari Majamaa
A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease.
Pediatrics 2003;111(3):e262-8.
2002: Maija Kiuru; Rainer Lehtonen; Johanna Arola; Reijo Salovaara; Heikki Järvinen; Kristiina Aittomäki; Jari Sjöberg; Tapio Visakorpi; Sakari Knuutila; Jorma Isola; Brett Delahunt; Riitta Herva; Virpi Launonen; Auli Karhu; Lauri A Aaltonen
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.
Cancer research 2002;62(16):4554-7.
2002: Tommi E Vaskivuo; Kristiina Aittomäki; Mikko Anttonen; Aimo Ruokonen; Riitta Herva; Yoshio Osawa; Markku Heikinheimo; Ilpo Huhtaniemi; Juha S Tapanainen
Effects of follicle-stimulating hormone (FSH) and human chorionic gonadotropin in individuals with an inactivating mutation of the FSH receptor.
Fertility and sterility 2002;78(1):108-13.
2002: Riitta Kaarteenaho-Wiik; Vuokko L Kinnula; Riitta Herva; Ylermi Soini; Raimo Pollanen; Paavo Pääkkö
Tenascin-C is highly expressed in respiratory distress syndrome and bronchopulmonary dysplasia.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2002;50(3):423-31.
2002: Sirpa Ranta; Aune Hirvasniemi; Riitta Herva; Matti Haltia; Anna-Elina Lehesjoki
[Northern epilepsy and the gene error behind it].
Duodecim; lääketieteellinen aikakauskirja 2002;118(15):1551-8.
2001: Saara Finnilä; Seppo Tuisku; Riitta Herva; Kari Majamaa
A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL.
Journal of molecular medicine (Berlin, Germany) 2001;79(11):641-7.
2001: Riitta Kaarteenaho-Wiik; Vuokko Kinnula; Riitta Herva; Paavo Pääkkö; Raimo Pollanen; Ylermi Soini
Distribution and mRNA expression of tenascin-C in developing human lung.
American journal of respiratory cell and molecular biology 2001;25(3):341-6.
2001: Maija Kiuru; Virpi Launonen; Marja Hietala; Kristiina Aittomäki; Outi Vierimaa; Reijo Salovaara; Johanna Arola; Eero Pukkala; Pertti Sistonen; Riitta Herva; Lauri A Aaltonen
Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology.
The American journal of pathology 2001;159(3):825-9.
2001: Tommi E Vaskivuo; Mikko Anttonen; Riitta Herva; Hakan Billig; M Dorland; Egbert R te Velde; Frej Stenbäck; Markku Heikinheimo; Juha S Tapanainen
Survival of human ovarian follicles from fetal to adult life: apoptosis, apoptosis-related proteins, and transcription factor GATA-4.
The Journal of clinical endocrinology and metabolism 2001;86(7):3421-9.
2001: Susa Vilkki; J L Tsao; Anu Loukola; Minna Pöyhönen; Outi Vierimaa; Riitta Herva; Lauri A Aaltonen; D Shibata
Extensive somatic microsatellite mutations in normal human tissue.
Cancer research 2001;61(11):4541-4.
2001: Virpi Launonen; Outi Vierimaa; Maija Kiuru; Jorma Isola; S Roth; Eero Pukkala; Pertti Sistonen; Riitta Herva; Lauri A Aaltonen
Inherited susceptibility to uterine leiomyomas and renal cell cancer.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(6):3387-92.
2001: Matti Haltia; Riitta Herva; J Suopanki; M Baumann; Jaana Tyynelä
Hippocampal lesions in the neuronal ceroid lipofuscinoses.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2001;5 Suppl A():209-11.
2000: Ilkka Ketola; Virve Pentikäinen; Tommi E Vaskivuo; V Ilvesmäki; Riitta Herva; Leo Dunkel; Juha S Tapanainen; Jorma Toppari; Markku Heikinheimo
Expression of transcription factor GATA-4 during human testicular development and disease.
The Journal of clinical endocrinology and metabolism 2000;85(10):3925-31.
2000: Heikki Rantala; Laura Mannonen; S Ahtiluoto; Kimmo Linnavuori; Riitta Herva; Antti Vaheri; Marjaleena Koskiniemi
Human herpesvirus-6 associated encephalitis with subsequent infantile spasms and cerebellar astrocytoma.
Developmental medicine and child neurology 2000;42(6):418-21.
2000: Riitta Herva; Jaana Tyynelä; Aune Hirvasniemi; M Syrjäkallio-Ylitalo; Matti Haltia
Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis.
Brain pathology (Zurich, Switzerland) 2000;10(2):215-22.
2000: Johanna Uusimaa; Anne M Remes; Heikki Rantala; Leena Vainionpää; Riitta Herva; Katri Vuopala; Matti Nuutinen; Kari Majamaa; Ilmo E Hassinen
Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders.
Pediatrics 2000;105(3 Pt 1):598-603.
1998: Nina Järvinen; P Mäkelä-Bengs; Anu Suomalainen; Katri Vuopala; Riitta Herva; Aarno Palotie; Leena Peltonen
LCCS: a lethal motoneuron disease of the fetus maps to chromosome 9q34.
Annals of the New York Academy of Sciences 1998;857():260-2.
1998: P Mäkelä-Bengs; Nina Järvinen; Katri Vuopala; Anu Suomalainen; Jaakko Ignatius; M Sipilä; Riitta Herva; Aarno Palotie; Leena Peltonen
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.
American journal of human genetics 1998;63(2):506-16.
1998: Marjo Kestilä; U Lenkkeri; Minna Männikkö; Jane Lamerdin; P McCready; H Putaala; Vesa Ruotsalainen; T Morita; Marja Nissinen; Riitta Herva; C E Kashtan; Leena Peltonen; Christer Holmberg; A Olsen; Karl Tryggvason
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.
Molecular cell 1998;1(4):575-82.
1998: O Montonen; S Ezer; Ulpu Saarialho-Kere; Riitta Herva; Marja-Liisa Karjalainen-Lindsberg; I Kaitila; David Schlessinger; Anand K Srivastava; Irma Thesleff; Juha Kere
The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 1998;46(3):281-9.
1998: Hannu Kalimo; T Aho; Kaarina Amberla; M Baumann; Riitta Herva; Vesa Juvonen; K Kalimo; H Mononen; Vilho V Myllylä; Minna Pöyhönen; J Rinne; Marja-Liisa Savontaus; P Sonninen; V Sonninen; Seppo Tuisku; Matti Viitanen
[CADASIL disease: a hereditary arterial disease leading to brain infarctions and dementia].
Duodecim; lääketieteellinen aikakauskirja 1998;114(20):2041-51.
1996: Katri Vuopala; Riitta Herva; F Pedrosa-Domellöf; Lars-Eric Thornell
Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome.
Birth defects original article series 1996;30(1):369-78.
1995: Katri Vuopala; P Mäkelä-Bengs; Anu Suomalainen; Riitta Herva; Jaakko Leisti; Leena Peltonen
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.
Journal of medical genetics 1995;32(1):36-8.
1995: Katri Vuopala; Jaakko Ignatius; Riitta Herva
Lethal arthrogryposis with anterior horn cell disease.
Human pathology 1995;26(1):12-9.
1995: Katri Vuopala; F Pedrosa-Domellöf; Riitta Herva; Jaakko Leisti; Lars-Eric Thornell
Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect.
Acta neuropathologica 1995;90(2):176-83.
1994: Katri Vuopala; Jaakko Leisti; Riitta Herva
Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years.
Neuropediatrics 1994;25(6):308-15.
1994: Katri Vuopala; Riitta Herva
Lethal congenital contracture syndrome: further delineation and genetic aspects.
Journal of medical genetics 1994;31(7):521-7.
1991: Pirkko Santavuori; Juhani Rapola; A Nuutila; Raili Raininko; Marjatta Lappi; Jyrki Launes; Riitta Herva; Kirsi Sainio
The spectrum of Jansky-Bielschowsky disease.
Neuropediatrics 1991;22(2):92-6.
1988: Riitta Herva; N G Conradi; H Kalimo; Jaakko Leisti; P Sourander
A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases.
American journal of medical genetics 1988;29(1):67-76.
1987: Riitta Herva; L von Wendt; G von Wendt; AL Saukkonen; Jaakko Leisti; V Dubowitz
A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy.
Neuropediatrics 1987;18(3):164-9.